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Implementation of a novel analytical framework for large-scale genetic data. Extending the genetic architecture of type 2 diabetes beyond common variants 

Bonàs Guarch, Sílvia (Date of defense: 2017-01-13)

The major landmark in modern genomic and biological research has been the first survey of the entire human genome. On June 2000 the staging of Bill Clinton along with Craig Venter and Francis Collins ...

Identification and characterization of non-coding genomic variations associated to cancer diseases 

González Rosado, Santiago (Date of defense: 2016-04-28)

The genetic and molecular bases of most of the human diseases have become one of the main goals of the human biology in the last decades. To be able to unveil the genetic variations and the affected ...

Comprehensive identification and characterisation of germline structural variation within the Iberian population 

Valls Margarit, Jordi (Date of defense: 2021-06-08)

One of the central aims of biology and biomedicine has been the characterisation and understanding of genetic variation across humans, to answer important evolutionary questions and to explain phenotypic ...

Integrating structural and X-chromosome variants in genetic studies of complex diseases 

Matías Sánchez, Daniel (Date of defense: 2023-10-27)

[eng] In recent years, the genetics field has placed a significant emphasis on identifying and characterizing genetic factors contributing to complex diseases, alongside environmental factors. Genome-wide ...

From the discovery of epistatic events in Type 2 Diabetes Mellitus to the study of related gene expression regulatory variation 

Alonso Parrilla, Lorena (Date of defense: 2023-01-16)

[eng] One of the major and most challenging goals of Biomedicine during the last centuries has been the study of the human biological mechanisms, and its relation with traits and diseases. Particularly, ...

A systematic and comprehensive approach for large-scale genome-wide association studies. Unraveling non-additive inheritance models in age-related diseases 

Guindo Martínez, Marta (Date of defense: 2019-12-18)

Genome-wide association studies (GWAS) have been proven useful for identifying thousands of associations between genetic variants and human complex diseases and traits. However, the identified loci ...

Papel de las regiones reguladoras de la expresión génica en la adaptación a factores ambientales en procariotas 

Fernández Vidal, Leyden (Date of defense: 2015-01-22)

Se ha demostrado en un número de estudios de metagenómica que la adición y la pérdida de genes específicos ha permitido a los microbiomas adaptarse a condiciones ambientales típicas de los entornos. ...

Study of complex chromosomal rearrangements in cancer. The role of extrachromosomal circular DNA as a genome remodeler in neuroblastoma 

Rodriguez Fos, Elias (Date of defense: 2020-07-15)

This thesis illustrates the work I have developed as a Ph.D. student in the computational genomics group lead by Dr. David Torrents at the Barcelona Supercomputing Center. The group’s expertise in the ...

Identification and characterization of new complex patterns of structural DNA and RNA alterations in cancer 

Delgado Serrano, Luisa Fernanda (Date of defense: 2021-12-02)

Human cancer arises as a result of genomic alterations that transform cells and make them to grow without control and to pathological levels. The characterization of such genomic changes has enabled ...

Detection and classification of somatic structural variants, and its application in the study of neuronal development 

Planas Fèlix, Mercè (Date of defense: 2020-10-05)

The identification and analysis of genomic variation across individuals has been central in biology, first through comparative genomics to answer evolutionary questions, and then in the context of ...

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Director

Torrents Arenales, David (10)

Mercader Bigas, Josep Maria (2)

Salvoro, Cecilia (1)

Date of defense

2023 (2)

2021 (2)

2020 (2)

2019 (1)

2017 (1)

Language

English (9)

Spanish (1)

... Show more

Keywords and Knowledge Area

Ciències Experimentals i Matemàtiques (10)

Genòmica (7)

Genómica (7)

Genomics (6)

Cancer (4)

... Show more

Subjects

575 - General genetics. General cytogenetics. Immunogenetics. Evolution. Phylogeny (9)

577 - Biochemistry. Molecular biology. Biophysics (1)

... Show more

Full text availability

Open access (10)

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